M1V (p.Met1Val) variant of SATB2 (DNA-binding protein SATB2)
M1V (p.Met1Val) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1553507391
- ClinGen CA350388705
- ClinVar RCV000578907
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.28
- MetaSVM -0.49
- PolyPhen-2 0.32
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available